{
  "id": 11927,
  "label": "MERRF syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010790",
  "properties": {
    "xrefs": [
      "DOID:310",
      "GARD:0007144",
      "ICD10CM:E88.42",
      "ICD9:277.87",
      "MEDGEN:56486",
      "MESH:D017243",
      "MedDRA:10069825",
      "NANDO:1200177",
      "NANDO:2200526",
      "NCIT:C84889",
      "NORD:1441",
      "OMIM:545000",
      "Orphanet:551",
      "SCTID:68448003",
      "UMLS:C0162672"
    ],
    "synonyms": [
      "Fukuhara syndrome",
      "MERRF",
      "MERRF syndrome",
      "myoclonic epilepsy - ragged red fibres",
      "myoclonus epilepsy and ragged red fibres",
      "myoclonus epilepsy associated with ragged-red fibers",
      "myoclonus epilepsy associated with ragged-red fibres",
      "myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)",
      "myoclonus with epilepsy and with ragged Red fibres",
      "myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)",
      "myoclonic epilepsy associated with ragged red fibers",
      "myoclonic epilepsy associated with ragged red fibres",
      "myoclonic epilepsy associated with ragged-RED fibers",
      "myoclonic epilepsy associated with ragged-RED fibres",
      "myoclonic epilepsy with ragged red fibers",
      "myoclonic epilepsy with ragged red fibres",
      "myoencephalopathy ragged-red fiber disease",
      "myoencephalopathy ragged-red fibre disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 6459,
      "label": "mitochondrial encephalomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        10856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:890",
          "GARD:0024084",
          "ICD9:277.87",
          "MEDGEN:57960",
          "MESH:D017237",
          "SCTID:447292006",
          "UMLS:C0162666"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)"
      },
      "child_count": 2,
      "reference_id": "MONDO:0004675"
    },
    {
      "id": 19726,
      "label": "progressive myoclonus epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24301,
        25079
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:891",
          "GARD:0007140",
          "MEDGEN:199732",
          "MESH:D020191",
          "NANDO:1200953",
          "NANDO:2100237",
          "NCIT:C7636",
          "NORD:1617",
          "OMIMPS:254800",
          "Orphanet:98261",
          "SCTID:267581004",
          "UMLS:C0751778",
          "icd11.foundation:173613583"
        ],
        "synonyms": [
          "PME",
          "epilepsy, progressive myoclonic",
          "progressive myoclonic epilepsy",
          "progressive myoclonic epilepsy (disorder) [ambiguous]",
          "progressive myoclonus epilepsy",
          "familial progressive myoclonic epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system."
      },
      "child_count": 45,
      "reference_id": "MONDO:0020074"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 6459,
      "label": "mitochondrial encephalomyopathy"
    },
    {
      "id": 19726,
      "label": "progressive myoclonus epilepsy"
    }
  ]
}